mucopolysaccharidosis VI

Preferred Label : mucopolysaccharidosis VI;

CISMeF synonym : 6, Mucopolysaccharidosis Type; Mucopolysaccharidosis Type 6s; Mucopolysaccharidosis VIs; Type 6s, Mucopolysaccharidosis;

UMLS semantic type : T019 - Congenital Abnormality; T047 - Disease or Syndrome;

Details

Origin ID

M0014176;

UMLS CUI

C0026709;

Automatic exact mappings (from CISMeF team)
- Maroteaux mucopolysaccharidosis [PASCAL descriptor]
Currated CISMeF NLP mapping
- Deficiency of N-acetylgalactosamine-4-sulfatase (disorder) [SNOMED CT concept]
- Maroteaux Lamy syndrome [Disease (Nov.)]
- Maroteaux-Lamy Syndrome [NCIt concept]
- Maroteaux-Lamy syndrome [MedDRA LLT]
- Maroteaux-Lamy syndrome (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis VI [MedDRA Preferred Term]
- Mucopolysaccharidosis type 6 [ICD-11 Sub-sub category]
- Mucopolysaccharidosis type 6 [ORDO Disease]
- Mucopolysaccharidosis, type VI [OMIM Phenotype]
- maroteaux-lamy syndrome, nos [SNOMED Notion]
- mucopolysaccharidosis VI [DO Concept]
Related record
- mucopolysaccharidosis VI [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of N-acetylgalactosamine-4-sulfatase (disorder) [SNOMED CT concept]
- Maroteaux Lamy syndrome [Disease (Nov.)]
- Maroteaux-Lamy Syndrome [NCIt concept]
- Maroteaux-Lamy syndrome [MedDRA LLT]
- Maroteaux-Lamy syndrome (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis VI [MedDRA Preferred Term]
- Mucopolysaccharidosis type 6 [ORDO Disease]
- Mucopolysaccharidosis type 6 [ICD-11 Sub-sub category]
- Mucopolysaccharidosis, type VI [OMIM Phenotype]
- maroteaux-lamy syndrome, nos [SNOMED Notion]
- mucopolysaccharidosis VI [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients